Wilson disease: Genetic mutation

Wilson disease (copper storage disease) is a rare genetic disorder in which one or more genetic mutations disrupt copper metabolism in the liver. At some point, the liver becomes incapable of eliminating copper with bile, and copper accumulates in the liver, eyes and central nervous system. This results in serious liver damage and neurological problems inter alia. MedUni Vienna researchers led by hepatologist Peter Ferenci have now discovered that a recently described genetic mutation protects against fatty liver – apparently via vitamin A metabolism –and also ensures a better outcome for Wilson disease patients. In future, this finding could prove very useful in the personalised treatment of such patients.

The gene that has been identified is “HSD17B13,” which, according to Ferenci, plays an important role in vitamin A metabolism. Follow-up studies are planned to establish whether Wilson disease patients could benefit from this knowledge and potential treatment through the administration of vitamin A. Overall, this genetic mutation was found in every fourth person (around 26 percent). “We can assume that the HSD17B13 gene plays a critical role in the progression of Wilson disease,” explains Ferenci. “If patients do not have this mutation, their prognosis is poorer. So, in the spirit of precision medicine, we are able to predict much more accurately how the disease will progress.

In a highly regarded study published in Hepatology in 2018, the researchers showed that the protein ATP7B, known as the Wilson disease gene, and of which there are hundreds of mutations, did not provide any definitive information regarding prognosis.

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